منابع مشابه
The Human PAX6 Mutation Database
The Human PAX6 Mutation Database contains details of 94 mutations of the PAX6 gene. A Microsoft Access program is used by the Curator to store, update and search the database entries. Mutations can be entered directly by the Curator, or imported from submissions made via the World Wide Web. The PAX6 Mutation Database web page at URL http://www.hgu.mrc.ac.uk/Softdata/PAX6/ provides information a...
متن کاملThe human gene mutation database
The Human Gene Mutation Database (HGMD) represents a comprehensive core collection of data on published germline mutations in nuclear genes underlying human inherited disease. By September 1997, the database contained nearly 12 000 different lesions in a total of 636 different genes, with new entries currently accumulating at a rate of over 2000 per annum. Although originally established for th...
متن کاملThe Iranian human mutation database.
Introduction ore than 20 years have elapsed since the first single base pair substitution underlying an inherited disease in humans was characterized at the DNA level. Disease-associated gene lesions are currently collected and publicized by the Human Gene Mutation Database (HGMD) in Cardiff, locusspecific mutation databases, and to some extent by the Genome Database (GDB) and Online Mendelian ...
متن کاملThe human type I collagen mutation database
Type I collagen is the most abundant and ubiquitously distributed of the collagen family of proteins. It is a heterotrimer comprising two alpha1(I) chains and one alpha2(I) chain which are encoded by the unlinked loci COL1A1 and COL1A2 respectively. Mutations at these loci result primarily in the connective tissue disorders osteogenesis imperfecta and Ehlers-Danlos syndrome types VIIA and VIIB....
متن کاملThe Human Collagen Mutation Database 1998
The collagens are a large and diverse family of proteins which are found in the extracellular matrix. In common with one another, the 19 known collagen types have triple-helical domains of variable length but they differ with respect to their overall size and the nature and location of their globular domains. Collagen mutations lead to heritable defects of connective tissues and mutation data f...
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ژورنال
عنوان ژورنال: Indian Journal of Human Genetics
سال: 2008
ISSN: 0971-6866
DOI: 10.4103/0971-6866.45004